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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Protein associated with LIN7 1, MAGUK p55 family member
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q23.3
Chromosome location (bp)
67240713 - 67336061
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells 1,2. Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity 3. Required during embryonic and postnatal retinal development (By similarity). Required for the maintenance of cerebellar progenitor cells in an undifferentiated proliferative state, preventing premature differentiation, and is required for cerebellar histogenesis, fissure formation, cerebellar layer organization and cortical development (By similarity). Plays a role in neuronal progenitor cell survival, potentially via promotion of mTOR signaling (By similarity). Plays a role in the radial and longitudinal extension of the myelin sheath in Schwann cells (By similarity). May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter (By similarity). Plays a role in the T-cell receptor-mediated activation of NF-kappa-B 4. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity). Required for the normal polarized localization of the vesicular marker STX4 (By similarity). Required for the correct trafficking of the myelin proteins PMP22 and MAG (By similarity). Involved in promoting phosphorylation and cytoplasmic retention of transcriptional coactivators YAP1 and WWTR1/TAZ which leads to suppression of TGFB1-dependent transcription of target genes such as CCN2/CTGF, SERPINE1/PAI1, SNAI1/SNAIL1 and SMAD7 (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0002011[morphogenesis of an epithelial sheet] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0007009[plasma membrane organization] GO:0008104[protein localization] GO:0010467[gene expression] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016332[establishment or maintenance of polarity of embryonic epithelium] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019904[protein domain specific binding] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0032287[peripheral nervous system myelin maintenance] GO:0032288[myelin assembly] GO:0032991[protein-containing complex] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0035749[myelin sheath adaxonal region] GO:0035750[protein localization to myelin sheath abaxonal region] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0043219[lateral loop] GO:0043220[Schmidt-Lanterman incisure] GO:0043296[apical junction complex] GO:0045177[apical part of cell] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0048699[generation of neurons] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0072659[protein localization to plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0002011[morphogenesis of an epithelial sheet] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016332[establishment or maintenance of polarity of embryonic epithelium] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019904[protein domain specific binding] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0032991[protein-containing complex] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0043296[apical junction complex] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0048699[generation of neurons] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0072659[protein localization to plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002011[morphogenesis of an epithelial sheet] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016332[establishment or maintenance of polarity of embryonic epithelium] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019904[protein domain specific binding] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0032991[protein-containing complex] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0043296[apical junction complex] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0048699[generation of neurons] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0072659[protein localization to plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002011[morphogenesis of an epithelial sheet] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016332[establishment or maintenance of polarity of embryonic epithelium] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019904[protein domain specific binding] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0032991[protein-containing complex] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0043296[apical junction complex] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0048699[generation of neurons] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0072659[protein localization to plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002011[morphogenesis of an epithelial sheet] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016332[establishment or maintenance of polarity of embryonic epithelium] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019904[protein domain specific binding] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0032991[protein-containing complex] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0043296[apical junction complex] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0048699[generation of neurons] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0072659[protein localization to plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002011[morphogenesis of an epithelial sheet] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016332[establishment or maintenance of polarity of embryonic epithelium] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019904[protein domain specific binding] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0032991[protein-containing complex] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0043296[apical junction complex] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0048699[generation of neurons] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0072659[protein localization to plasma membrane]
The Human Protein Atlas project is funded
